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Hematological findings associated with tubulin-folding cofactors D-related encephalopathy: Expanding the phenotype.
Al-Bakheet, Albandary; Tohary, Mohamed; Khan, Sameena; Chedrawi, Aziza; Edrees, Alaa; Tous, Ehab; Al-Mousa, Hamoud; Al-Otaibi, Lefian; AlShahrani, Saif; Alsagob, Maysoon; Al-Quait, Laila; Almass, Rawan; Al-Joudi, Haya; Monies, Dorota; Al-Semari, Abdulaziz; Aldosary, Mazhor; Daghestani, Maha; Colak, Dilek; Kaya, Namik; Al-Owain, Mohammed.
Afiliação
  • Al-Bakheet A; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Tohary M; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Khan S; Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Chedrawi A; Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Edrees A; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Tous E; Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Al-Mousa H; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Al-Otaibi L; Department of Radiology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • AlShahrani S; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Alsagob M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Al-Quait L; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Almass R; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Al-Joudi H; Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Monies D; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Al-Semari A; Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Aldosary M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Daghestani M; Division of Genetics, Zoology Department, College of Science, King Saud University, Riyadh, Saudi Arabia.
  • Colak D; Department of Biostatistics, Epidemiology and Scientific Computing, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Kaya N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Al-Owain M; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Clin Genet ; 99(5): 724-731, 2021 05.
Article em En | MEDLINE | ID: mdl-33506509

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encefalopatias / Mutação de Sentido Incorreto / Proteínas Associadas aos Microtúbulos Tipo de estudo: Diagnostic_studies / Etiology_studies / Risk_factors_studies Limite: Adult / Child / Female / Humans / Infant / Male Idioma: En Revista: Clin Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Arábia Saudita

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encefalopatias / Mutação de Sentido Incorreto / Proteínas Associadas aos Microtúbulos Tipo de estudo: Diagnostic_studies / Etiology_studies / Risk_factors_studies Limite: Adult / Child / Female / Humans / Infant / Male Idioma: En Revista: Clin Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Arábia Saudita